Alteration of the epigenome is associated with a wide range of human diseases and deciphering the pathways that regulate these epigenetic modifications is a major milestone for the understanding of diverse biological mechanisms but also, human pathologies from common to rare diseases.

The involvement of epigenetic variability in the context of rare diseases remains poorly explored but might be significant in many cases, given the absence of correlation between the genetic defects, variability of symptoms and disease penetrance from patient to patient or within families. Our projects, combining molecular and cellular biology, genomics and medical sciences, is focused on understanding the epigenetic mechanisms involved in human pathologies, particularly rare diseases.

In this context, we are particularly interested in the epigenetic variability and regulation of subtelomeric regions in human diseases. We aim at understanding the functional interactions between telomeres, identical from one chromosome to another and chromosome-specific subtelomeric regions and investigated how these regions contribute to pathologies, especially through the exploration of Facio-Scapulo-Humeral Dystrophy (FSHD), a peculiar muscular dystrophy linked to subtelomeric imbalance. To achieve these goals, we have gathered tools and expertise for the diagnosis of this complex disease and more recently focused on the development of hiPSCs-based models for modeling pathologies affecting skeletal muscles and neuromuscular junctions. Our project is thus organized around two main axis, one focused on the exploration of epigenetic alterations in neuromuscular disorders, mainly FSHD and the second, on the development of cellular models and tools for the exploration of patho-mechanisms associated with neuromuscular diseases. In this context, continuously collaborate with hospital services and gathered large collections of biological samples that can be exploited experimentally, in particular through the production of induced pluripotent cells (hiPSCs) and the development of new methods for the targeted differentiation of these cells and disease modeling.

Nguyen, K.  et al. 2017

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As...
Hum. Mutat. - issue: 10 - volume: 38 - pages: 1432-1441.

Simoncini, S.  et al. 2017

Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6

Senescent cells may exert detrimental effect on microenvironment through the secretion of soluble factors and the release of extracellular vesicles, such as microparticles, key actors in ageing and...
Sci Rep - issue: 1 - volume: 7 - pages: 8277.

Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.

Robin, JD.  et al. 2016

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes,...
Front Genet - issue: - volume: 7 - pages: 153.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Chateau, A.  et al. 2016

SIRT1 Deficiency in endothelial progenitor cells drives pro-senescent microparticles release through MKK6 upregulation

WOS:000379164000355
J. Thromb. Haemost. - issue: - volume: 14 - pages: 139-139.

Lecocq, C.  et al. 2016

Delayed-onset Friedreich's ataxia revisited

BackgroundFriedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25...
Mov. Disord. - issue: 1 - volume: 31 - pages: 62-69.

Portilho, DM.  et al. 2015

miRNA expression in control and FSHD fetal human muscle biopsies

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of...
PLoS ONE - issue: 2 - volume: 10 - pages: e0116853.

Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.

Pilliod, J.  et al. 2015

New Practical Definitions for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Objective: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the...
Ann. Neurol. - issue: 6 - volume: 78 - pages: 871-886.

Boushaki, S.  et al. 2015

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections,...
Clin. Immunol. - issue: 2 - volume: 161 - pages: 286-290.

Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.

Boushaki, S.  et al. 2015

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections,...
Clin. Immunol. - issue: 2 - volume: 161 - pages: 286-290.

Mariot, V.  et al. 2015

Correlation between low FAT1 expression and early affected muscle in FSHD

WOS:000362925400444
Neuromusc. Disord. - issue: - volume: 25 - pages: S312-S312.

Mariot, V.  et al. 2015

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant...
Ann. Neurol. - issue: 3 - volume: 78 - pages: 387-400.

Nguyen, K.  et al. 2015

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique...
Clin. Genet. - issue: 5 - volume: 87 - pages: 488-491.

Puppo, F.  et al. 2015

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated...
Hum. Mutat. - issue: 4 - volume: 36 - pages: 443-453.

Portilho, DM.  et al. 2015

miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies

Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD...
PLoS One - issue: 2 - volume: 10 - pages: e0116853.

Salort-Campana, E.  et al. 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35....
Orphanet J Rare Dis - issue: - volume: 10 - pages: 2.

Badja, C.  et al. 2014

Efficient and Cost-Effective Generation of Mature Neurons From Human Induced Pluripotent Stem Cells

For years, our ability to study pathological changes in neurological diseases has been hampered by the lack of relevant models until the recent groundbreaking work from Yamanaka's group showing that...
Stem Cells Transl. Med. - issue: 12 - volume: 3 - pages: 1467-1472.

Badja, C.  et al. 2014

Efficient and cost-effective generation of mature neurons from human induced pluripotent stem cells

For years, our ability to study pathological changes in neurological diseases has been hampered by the lack of relevant models until the recent groundbreaking work from Yamanaka's group showing that...
Stem Cells Transl Med - issue: 12 - volume: 3 - pages: 1467-1472.

Robin, JD.  et al. 2014

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

While global chromatin conformation studies are emerging, very little is known about the chromatin conformation of human telomeres. Most studies have focused on the role of telomeres as a tumor...
Genes Dev. - issue: 22 - volume: 28 - pages: 2464-2476.

Robin, JD.  et al. 2014

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

While global chromatin conformation studies are emerging, very little is known about the chromatin conformation of human telomeres. Most studies have focused on the role of telomeres as a tumor...
Genes Dev. - issue: 22 - volume: 28 - pages: 2464-2476.

Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.

Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.

Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.

Ferreboeuf, M.  et al. 2014

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Poulain, S.  et al. 2013

Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia

SNP array (SNPa) was developed to detect copy number alteration (CNA) and loss of heterozygosity (LOH) without copy number changes, CN-LOH. We aimed to identify novel genomic aberrations using SNPa in...
Am. J. Hematol. - issue: 11 - volume: 88 - pages: 948-954.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Robin, JD.  et al. 2013

Length dependent telomere looping affects long-distant gene expression (5 Mb) in FSHD

WOS:000324972500271
Neuromusc. Disord. - issue: 9-10 - volume: 23 - pages: 824-824.

Ferreboeuf, M.  et al. 2013

DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

WOS:000324972500267
Neuromusc. Disord. - issue: 9-10 - volume: 23 - pages: 823-823.

Boussouar, A.  et al. 2013

Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol Ther Nucleic Acids - issue: - volume: 2 - pages: e116.

Boussouar, A.  et al. 2013

Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells

We took advantage of the ability of human telomeres to silence neighboring genes (telomere position effect or TPE) to design a high-throughput screening assay for drugs altering telomeres. We...
Mol. Ther.-Nucl. Acids - issue: - volume: 2 - pages: e116.

Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.

Diala, I.  et al. 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/beta-catenin signalling pathway in...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.

Diala, I.  et al. 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/β-catenin signalling pathway in human...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.

Roche, S.  et al. 2013

Comparative analysis of protein expression of three stem cell populations: Models of cytokine delivery system in vivo

Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we...
Int. J. Pharm. - issue: 1 - volume: 440 - pages: 72-82.

Galati, A.  et al. 2012

TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner

Mammalian telomeres stabilize chromosome ends as a result of their assembly into a peculiar form of chromatin comprising a complex of non-histone proteins named shelterin. TRF2, one of the shelterin...
PLoS ONE - issue: 4 - volume: 7 - pages: e34386.

Herbaux, C.  et al. 2012

B-Cell-Specific Transcription Factor BACH2 Involved in the Clinical Behavior Heterogeneity of Waldenstrom Macroglobulinemia

WOS:000313838902278
Blood - issue: 21 - volume: 120 - pages: .

Fahiminiya, S.  et al. 2012

Improvement of 2D-PAGE Resolution of Human, Porcine and Canine Follicular Fluid: Comparison of Two Immunodepletion Columns

Contents Follicular fluid provides the microenvironment within which somatic cells proliferate and differentiate, and the oocyte matures. It contains a number of soluble factors implicated in various...
Reprod. Domest. Anim. - issue: 5 - volume: 47 - pages: e67-e70.

Galati, A.  et al. 2012

TRF2 Controls Telomeric Nucleosome Organization in a Cell Cycle Phase-Dependent Manner

Mammalian telomeres stabilize chromosome ends as a result of their assembly into a peculiar form of chromatin comprising a complex of non-histone proteins named shelterin. TRF2, one of the shelterin...
PLoS One - issue: 4 - volume: 7 - pages: e34386.

Simonet, T.  et al. 2011

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats

The study of the proteins that bind to telomeric DNA in mammals has provided a deep understanding of the mechanisms involved in chromosome-end protection. However, very little is known on the binding...
Cell Res. - issue: 7 - volume: 21 - pages: 1028-1038.

Ye, J.  et al. 2010

TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

Human telomeres are protected from DNA damage by a nucleoprotein complex that includes the repeat-binding factor TRF2. Here, we report that TRF2 regulates the 5' exonuclease activity of its binding...
Cell - issue: 2 - volume: 142 - pages: 230-242.

Falandry, C.  et al. 2010

CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation

Proteins bearing a SET domain have been shown to methylate lysine residues in histones and contribute to chromatin architecture. Methylation of histone H3 at lysine 9 (H3K9) has emerged as an...
J. Biol. Chem. - issue: 26 - volume: 285 - pages: 20234-20241.

Ourliac-Garnier, I.  et al. 2010

Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1

Telomeres, the nucleoprotein complexes located at the ends of chromosomes, are involved in chromosome protection and genome stability. Telomeric repeat binding factor 1 (TRF1) and telomeric repeat...
J. Biol. Inorg. Chem. - issue: 5 - volume: 15 - pages: 641-654.

Arnoult, N.  et al. 2010

Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization

The mechanisms governing telomere replication in humans are still poorly understood. To fill this gap, we investigated the timing of replication of single telomeres in human cells. Using in situ...
PLoS Genet. - issue: 4 - volume: 6 - pages: e1000920.

Ottaviani, A.  et al. 2010

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently...
Nucleus - issue: 1 - volume: 1 - pages: 30-36.

Ottaviani, A.  et al. 2009

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

The localization of genes within the nuclear space is of paramount importance for proper genome functions. However, very little is known on the cis-acting elements determining subnuclear positioning...
EMBO J. - issue: 16 - volume: 28 - pages: 2428-2436.

Horard, B.  et al. 2009

Global analysis of DNA methylation and transcription of human repetitive sequences

Half of the human genome consists of repetitive DNA sequences. Recent studies in various organisms highlight the role of chromatin regulation of repetitive DNA in gene regulation as well as in...
Epigenetics - issue: 5 - volume: 4 - pages: 339-350.

Ottaviani, A.  et al. 2009

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this...
PLoS Genet. - issue: 2 - volume: 5 - pages: e1000394.

Ottaviani, A.  et al. 2008

Telomeric position effect: from the yeast paradigm to human pathologies?

Alteration of the epigenome is associated with a wide range of human diseases. Therefore, deciphering the pathways that regulate the epigenetic modulation of gene expression is a major milestone for...
Biochimie - issue: 1 - volume: 90 - pages: 93-107.

Auriol, E.  et al. 2005

Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus

The methyl-CpG binding domain (MBD) proteins are key molecules in the interpretation of DNA methylation signals leading to gene silencing. We investigated their binding specificity at the...
Nucleic Acids Res. - issue: 13 - volume: 33 - pages: 4243-4254.

Defossez, P.  et al. 2005

The human enhancer blocker CTC-binding factor interacts with the transcription factor Kaiso

CTC-binding factor (CTCF) is a DNA-binding protein of vertebrates that plays essential roles in regulating genome activity through its capacity to act as an enhancer blocker. We performed a yeast...
J. Biol. Chem. - issue: 52 - volume: 280 - pages: 43017-43023.

Felsenfeld, G.  et al. 2004

Chromatin boundaries and chromatin domains


Cold Spring Harb. Symp. Quant. Biol. - issue: - volume: 69 - pages: 245-250.

Magdinier, F.  et al. 2004

Both CTCF-dependent and -independent insulators are found between the mouse T cell receptor alpha and Dad1 genes

The T cell rearrangement of the T cell receptor (TCR) genes TCRalpha and delta is specifically regulated by a complex interplay between enhancer elements and chromatin structure. The alpha enhancer is...
J. Biol. Chem. - issue: 24 - volume: 279 - pages: 25381-25389.

Fourel, G.  et al. 2004

Insulator dynamics and the setting of chromatin domains

The early discovery of cis-regulatory elements able to promote transcription of genes over large distances led to the postulate that elements, termed insulators, should also exist that would limit the...
Bioessays - issue: 5 - volume: 26 - pages: 523-532.

Magdinier, F.  et al. 2002

Epigenetic marks at BRCA1 and p53 coding sequences in early human embryogenesis

In the vertebrate genome, methylation of deoxycytosine residues of CpGs dinucleotide has been associated with transcriptional silencing of genes, parental imprinting, X-inactivation and chromatin...
Mol. Hum. Reprod. - issue: 7 - volume: 8 - pages: 630-635.

Billard, L.  et al. 2002

MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland

During the last years, a direct link between DNA methylation and repressive chromatin structure has been established. This structural modification is mediated by histone deacetylases targeted to the...
Oncogene - issue: 17 - volume: 21 - pages: 2704-2712.

Bachelier, R.  et al. 2002

Retroviral transduction of splice variant Brca1-Delta11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia

We have investigated the effects of the expression of wild-type and mutant Brca1 alleles on the murine mammary gland morphogenesis and carcinogenesis. Primary cultures of mammary cells from...
Virchows Arch. - issue: 3 - volume: 440 - pages: 261-266.

Magdinier, F.  et al. 2001

Selective association of the methyl-CpG binding protein MBD2 with the silent p14/p16 locus in human neoplasia

DNA methylation of tumor suppressor genes is a common feature of human cancer. The cyclin-dependent kinase inhibitor gene p16/Ink4A is hypermethylated in a wide range of malignant tissues and the...
Proc. Natl. Acad. Sci. U.S.A. - issue: 9 - volume: 98 - pages: 4990-4995.

Magdinier, F.  et al. 2000

Regional methylation of the 5' end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells

In mammalians, demethylation of specific promoter regions often correlates with gene activation; inversely, dense methylation of CpG islands leads to gene silencing, probably mediated by methyl-CpG...
FASEB J. - issue: 11 - volume: 14 - pages: 1585-1594.

Magdinier, F.  et al. 1999

BRCA1 expression during prenatal development of the human mammary gland

Germ-line alterations of BRCA1 are associated with elevated risk of breast cancer. Evidence for the involvement of Brca1 in cellular differentiation and morphogenesis has been obtained in mouse models...
Oncogene - issue: 27 - volume: 18 - pages: 4039-4043.

Magdinier, F.  et al. 1998

Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region

Germ-line alterations of BRCA1 are responsible for about 50% of familial breast cancers. Although its biological function(s) has not yet been fully determined, it has been suggested that it may act as...
Oncogene - issue: 24 - volume: 17 - pages: 3169-3176.

Ribieras, S.  et al. 1997

Abundance of BRCA1 transcripts in human cancer and lymphoblastoid cell lines carrying BRCA1 germ-line alterations

A competitive polymerase chain reaction has been developed for quantitation of BRCA1 mRNA. In human cancer cell lines, the amount of BRCA1 mRNA is relatively low, ranging from 6 to 38 copies per cell....
Int. J. Cancer - issue: 5 - volume: 73 - pages: 715-718.